Cystinosis: The evolution of a treatable disease

Galina Nesterova, William A. Gahl

Research output: Contribution to journalReview articlepeer-review

85 Scopus citations


Cystinosis is a rare autosomal recessive disorder involving lysosomal storage of the amino acid cystine due to a defect in the membrane transport protein, cystinosin. Since the introduction of kidney transplants and the availability of cystine-depleting medical therapy, this previously fatal disease was transformed into a treatable disorder. Renal allografts and medical therapy targeting the basic metabolic defect have altered the natural hisotry of cystinosis so drastically that patients have a life expectancy extending past 50 years. Consequently, early diagnosis and appropriate therapy are critically important. In this article, we offer a review of the manifestations of cystinosis, including the proximal tubular dysfunction of renal Fanconi syndrome, and discuss the prevention and treatment of the disorder's systemic complications. We focus on the nephropathic forms of cystinosis, aiming to assist nephrologists and other physicians to develop early recognition and appropriate management of cystinosis patients.

Original languageEnglish (US)
Pages (from-to)51-59
Number of pages9
JournalPediatric Nephrology
Issue number1
StatePublished - Jan 2013
Externally publishedYes


  • Complications
  • Cysteamine
  • Cystinosis
  • Fanconi
  • Nephropathic

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Nephrology


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